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Genome-wide association study identifies multiple susceptibility loci for pulmonary fibrosis
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 Genome-wide association study identifies multiple susceptibility loci for pulmonary fibrosis.pdf | Accepted version | 1.23 MB | Adobe PDF | View/Open |
| Title: | Genome-wide association study identifies multiple susceptibility loci for pulmonary fibrosis |
| Authors: | Fingerlin, TE Murphy, E Zhang, W Peljto, AL Brown, KK Steele, MP Loyd, JE Cosgrove, GP Lynch, D Groshong, S Collard, HR Wolters, PJ Bradford, WZ Kossen, K Seiwert, SD Du Bois, RM Garcia, CK Devine, MS Gudmundsson, G Isaksson, HJ Kaminski, N Zhang, Y Gibson, KF Lancaster, LH Cogan, JD Mason, WR Maher, TM Molyneaux, PL Wells, AU Moffatt, MF Selman, M Pardo, A Kim, DS Crapo, JD Make, BJ Regan, EA Walek, DS Daniel, JJ Kamatani, Y Zelenika, D Smith, K McKean, D Pedersen, BS Talbert, J Kidd, RN Markin, CR Beckman, KB Lathrop, M Schwarz, MI Schwartz, DA |
| Item Type: | Journal Article |
| Abstract: | We performed a genome-wide association study of non-Hispanic, white individuals with fibrotic idiopathic interstitial pneumonias (IIPs; n = 1,616) and controls (n = 4,683), with follow-up replication analyses in 876 cases and 1,890 controls. We confirmed association with TERT at 5p15, MUC5B at 11p15 and the 3q26 region near TERC, and we identified seven newly associated loci (Pmeta = 2.4 × 10−8 to 1.1 × 10−19), including FAM13A (4q22), DSP (6p24), OBFC1 (10q24), ATP11A (13q34), DPP9 (19p13) and chromosomal regions 7q22 and 15q14-15. Our results suggest that genes involved in host defense, cell-cell adhesion and DNA repair contribute to risk of fibrotic IIPs. |
| Issue Date: | 1-Jun-2013 |
| Date of Acceptance: | 18-Mar-2013 |
| URI: | http://hdl.handle.net/10044/1/63034 |
| DOI: | https://dx.doi.org/10.1038/ng.2609 |
| ISSN: | 1061-4036 |
| Publisher: | Nature Publishing Group |
| Start Page: | 613 |
| End Page: | 624 |
| Journal / Book Title: | Nature Genetics |
| Volume: | 45 |
| Issue: | 6 |
| Copyright Statement: | © 2013 Nature America, Inc. All rights reserved. The final publication is available via https://dx.doi.org/10.1038/ng.2609 |
| Keywords: | Science & Technology Life Sciences & Biomedicine Genetics & Heredity SURFACTANT PROTEIN-C RIGHT-VENTRICULAR DYSPLASIA/CARDIOMYOPATHY PALMOPLANTAR KERATODERMA INTERSTITIAL PNEUMONIA GENOTYPE IMPUTATION DESMOPLAKIN CAUSES SIGNALING PATHWAY ABCA3 MUTATIONS CELL-ADHESION HAIR SYNDROME Case-Control Studies Chromosomes, Human Gene Expression Gene Frequency Genetic Loci Genetic Predisposition to Disease Genome-Wide Association Study Humans Idiopathic Pulmonary Fibrosis Lung Polymorphism, Single Nucleotide Sequence Analysis, DNA 11 Medical And Health Sciences 06 Biological Sciences Developmental Biology |
| Publication Status: | Published |
| Online Publication Date: | 2013-04-14 |
| Appears in Collections: | National Heart and Lung Institute |